NDUFA2

Chr 5

NADH:ubiquinone oxidoreductase subunit A2

Also known as: B8, CIB8, MC1DN13

NCBI Gene: 4695 ENSG00000131495 UniProt: O43678

The encoded protein is a subunit of NADH:ubiquinone oxidoreductase (complex I) in the mitochondrial electron transport chain and regulates complex I activity and assembly through redox processes. Biallelic mutations cause mitochondrial complex I deficiency, nuclear type 13, which presents as Leigh syndrome, an early-onset progressive neurodegenerative disorder. This condition follows autosomal recessive inheritance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 13

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.61

LOEUF

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Mechanism

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GeneReview available — NDUFA2